Bi-allelic mutations in COL3A1 encoding the ligand to GPR56...

European Journal of Paediatric Neurology 2017 / 06 Vol. 21

Bi-allelic mutations in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

Jansen, Anna C., Vandervore, Laura, Tanyalçin, Ibrahim, Vanderhasselt, Tim, Roelens, Filip, Holder-Espinasse, Muriel, Jørgensen, Agnete, Pepin, Melanie G., Petit, Florence, Van Kien, Philippe Khau, Ba
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Volume:
21
Language:
english
Journal:
European Journal of Paediatric Neurology
DOI:
10.1016/j.ejpn.2017.04.922
Date:
June, 2017
File:
PDF, 42 KB
english, 2017
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